Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
3.1.1.64
Hydrolases;
Acting on ester bonds;
Carboxylic-ester hydrolases;
retinoid isomerohydrolase
5.3.3.22
Isomerases;
Intramolecular oxidoreductases;
Transposing C=C bonds;
lutein isomerase
PDB | Resolution (Å) | PDB name |
---|
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0071257 | cellular response to electrical stimulus |
Biological Process | GO:0007623 | circadian rhythm |
Biological Process | GO:0050908 | detection of light stimulus involved in visual perception |
Biological Process | GO:0008286 | insulin receptor signaling pathway |
Biological Process | GO:0003407 | neural retina development |
Biological Process | GO:0010468 | regulation of gene expression |
Biological Process | GO:0001895 | retina homeostasis |
Biological Process | GO:0060042 | retina morphogenesis in camera-type eye |
Biological Process | GO:0042574 | retinal metabolic process |
Biological Process | GO:0001523 | retinoid metabolic process |
Biological Process | GO:0007601 | visual perception |
Biological Process | GO:0006776 | vitamin A metabolic process |
Biological Process | GO:1901827 | zeaxanthin biosynthetic process |
Molecular Function | GO:0052885 | all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity |
Molecular Function | GO:0052884 | all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity |
Molecular Function | GO:0003834 | beta-carotene 15,15'-dioxygenase activity |
Molecular Function | GO:1901612 | cardiolipin binding |
Molecular Function | GO:0016853 | isomerase activity |
Molecular Function | GO:0046872 | metal ion binding |
Molecular Function | GO:0031210 | phosphatidylcholine binding |
Molecular Function | GO:0001786 | phosphatidylserine binding |
Molecular Function | GO:0050251 | retinol isomerase activity |
Cellular Component | GO:0044297 | cell body |
Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
Cellular Component | GO:0016020 | membrane |
Cellular Component | GO:0005634 | nucleus |
Cellular Component | GO:0005886 | plasma membrane |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-2453902 | The canonical retinoid cycle in rods (twilight vision) | Internal node | R-HSA-9709957 | Sensory Perception |
Location | ECO term | Pubmed |
---|---|---|
Cell membrane | ECO:0000269 | PubMed:19049981 |
Cytoplasm | ECO:0000250 | |
Microsome membrane | ECO:0000250 |
HPO ID | HPO name |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000035 | Abnormal testis morphology |
HP:0000135 | Hypogonadism |
HP:0000365 | Hearing impairment |
HP:0000405 | Conductive hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000431 | Wide nasal bridge |
HP:0000463 | Anteverted nares |
HP:0000501 | Glaucoma |
HP:0000505 | Visual impairment |
HP:0000510 | Rod-cone dystrophy |
HP:0000512 | Abnormal electroretinogram |
HP:0000518 | Cataract |
HP:0000533 | Chorioretinal atrophy |
HP:0000541 | Retinal detachment |
HP:0000543 | Optic disc pallor |
HP:0000545 | Myopia |
HP:0000546 | Retinal degeneration |
HP:0000550 | Undetectable electroretinogram |
HP:0000551 | Color vision defect |
HP:0000563 | Keratoconus |
HP:0000577 | Exotropia |
HP:0000580 | Pigmentary retinopathy |
HP:0000602 | Ophthalmoplegia |
HP:0000613 | Photophobia |
HP:0000618 | Blindness |
HP:0000622 | Blurred vision |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0000662 | Nyctalopia |
HP:0000842 | Hyperinsulinemia |
HP:0000987 | Atypical scarring of skin |
HP:0001099 | Fundus atrophy |
HP:0001103 | Abnormal macular morphology |
HP:0001116 | Macular coloboma |
HP:0001141 | Severely reduced visual acuity |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001347 | Hyperreflexia |
HP:0001483 | Eye poking |
HP:0001513 | Obesity |
HP:0002084 | Encephalocele |
HP:0002172 | Postural instability |
HP:0002269 | Abnormality of neuronal migration |
HP:0002317 | Unsteady gait |
HP:0003593 | Infantile onset |
HP:0004374 | Hemiplegia/hemiparesis |
HP:0005978 | Type II diabetes mellitus |
HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
HP:0007663 | Reduced visual acuity |
HP:0007675 | Progressive night blindness |
HP:0007688 | Undetectable light- and dark-adapted electroretinogram |
HP:0007695 | Abnormal pupillary light reflex |
HP:0007703 | Abnormality of retinal pigmentation |
HP:0007722 | Retinal pigment epithelial atrophy |
HP:0007737 | Bone spicule pigmentation of the retina |
HP:0007787 | Posterior subcapsular cataract |
HP:0007793 | Granular macular appearance |
HP:0007814 | Retinal pigment epithelial mottling |
HP:0007843 | Attenuation of retinal blood vessels |
HP:0007994 | Peripheral visual field loss |
HP:0008046 | Abnormal retinal vascular morphology |
HP:0008736 | Hypoplasia of penis |
HP:0011342 | Mild global developmental delay |
HP:0011463 | Childhood onset |
HP:0011484 | Posterior synechiae of the anterior chamber |
HP:0011488 | Abnormal corneal endothelium morphology |
HP:0012230 | Rhegmatogenous retinal detachment |
HP:0012426 | Optic disc drusen |
HP:0012434 | Delayed social development |
HP:0012795 | Abnormal optic disc morphology |
HP:0030505 | Nummular pigmentation of the fundus |
HP:0030825 | Absent foveal reflex |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
leber congenital amaurosis 2 | MONDO:0008765 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:204100 | |
severe early-childhood-onset retinal dystrophy | MONDO:0009549 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:248200 | Orphanet:364055 |
retinitis pigmentosa 20 | MONDO:0013425 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:613794 | |
retinitis pigmentosa 87 with choroidal involvement | MONDO:0032873 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:618697 |